Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1

    Vineta Fellman, Rishi Banerjee, Kai-Lan Lin, Ilari Pulli, Helen Cooper, Henna Tyynismaa, Jukka Kallijärvi

    Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (2022)

    Published on December 4, 2025

    DOI: https://doi.org/10.1016/j.bbadis.2021.166298

    Core: Advanced Imaging Core
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